Varaico: Literature-Extracted Genetic Variants

Gene:EME1
Variant:p.E69D

EME1

92 papers

RefSeq Summary

This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures inc...

Pfam Domains

ERCC4aa 257–439UCSCERCC4 domain
EME1-MUS81_Caa 481–554UCSCEME1/MUS81, C-terminal

Gene Aliases

HGNC Name

essential meiotic structure-specific endonuclease 1

HGNC Alias Symbols

FLJ31364; MMS4L; SLX2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_152463.4
p.E69D
c.207A>C
Surrounding Variants
8 papers
NM_152463.4
p.E69D
c.207A>T
1 paper
NM_152463.4
p.P66S
c.196C>T
1 paper
NM_152463.4
p.F63L
c.189T>A
1 paper
NM_152463.4
p.F63L
c.189T>G
1 paper
NM_152463.4
p.F63L
c.187T>C
1 paper
NM_152463.4
p.E61V
c.182A>T
1 paper
NM_152463.4
p.E90Q
c.268G>C
1 paper
NM_152463.4
p.I94S
c.281T>G
1 paper
NM_152463.4
p.Q37*
c.109C>T
1 paper
NM_152463.4
p.K27R
c.80A>G
1 paper
NM_152463.4
p.K27M
c.80A>T
1 paper
NM_152463.4
p.F23fs
c.67_68fs
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